title: [22q11.2 deletion syndrome and complex congenital heart defects].
abstract: OBJECTIVE
  Investigate the frequency of 22q11 deletion syndrome among patients with complex congenital heart disease.
  
  
  METHODS
  A prospective and consecutive cohort of patients with complex heart defects was evaluated in their first hospitalization at a cardiac intensive care unit of a pediatric hospital. For each patient a protocol of demographic and clinical evaluation was filled. High resolution karyotype and 22q11 microdeletion by fluorescence in situ hybridization was investigated. The heart defects were classified by a cardiologist of the study.
  
  
  RESULTS
  The cohort comprised 66 patients. Karyotypic anomalies were observed in 5 patients (7.6%), however none of those was the 22q11 deletion. Evaluation by means of FISH was successful in 65 patients and 22q11 microdeletion was identified in 2 (3.1%). Of the 66 patients with complex defects, 52 were carriers of conotruncal malformations and in 51 the 22q11 microdeletion analysis by FISH was successful. Both 22q11 microdeletion carriers belonged to this group, representing a frequency of 3.9%. They presented tetralogy of Fallot.
  
  
  CONCLUSIONS
  22q11DS is a frequent abnormality among patients with complex and conotruncal heart defects. Variations of the 22q11DS frequency among studies seem to be mainly associated to criteria for patient selection and specific characteristics of the population in analysis.
authors.affiliation: Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS.
authors.forename: Rafael Fabiano Machado
authors.initials: RF
authors.lastname: Rosa
authors.forename: Patrícia
authors.initials: P
authors.lastname: Trevisan
authors.forename: Dayane Bohn
authors.initials: DB
authors.lastname: Koshiyama
authors.forename: Carlo Benatti
authors.initials: CB
authors.lastname: Pilla
authors.forename: Paulo Ricardo Gazzola
authors.initials: PR
authors.lastname: Zen
authors.forename: Marileila
authors.initials: M
authors.lastname: Varella-Garcia
authors.forename: Giorgio Adriano
authors.initials: GA
authors.lastname: Paskulin
mesh_terms: D002648:Child; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011446:Prospective Studies